Global Variome shared LOVD

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Phenotype #0000358338 Individual ID 00473543 Associated disease CMT Phenotype details Decrease of lower limbs movement; Recurrent pneumonia; No able to walk without aid; Difficulty standing and walking; Muscle weakness, progressive, distal>proximal; Muscle atrophy, hypothenar & calves; Lordosis; Hypotonia, mild. Recent EMG-NCV findings are compatible with a diagnosis of severe sensorimotor (demylinating and axonal type) of PNP of upper and lower extremities which must be due to hereditary of peripheral neuropathy Diagnosis/Initial Charcot-Marie-Tooth disease Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 4y (4 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2026-03-06 17:24:40 +01:00 (CET) Date last edited N/A

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